HEK293DeltaNDUFS2 Cell Line

The HEK293?NDUFS2 cell line expresses a CRISPR/Cas9 mutated NDUFS2, shown to significantly alter the function of complex I (CI) of the mitochondrial electron transport chain_x000D_ _x000D_ Specific disruptions in the NDUFS2 gene have been reported to present clinically as the following disease conditions:_x000D_ -Leigh syndrome_x000D_ -Cardiomyopathy_x000D_ -Encephalomyopathy_x000D_ -Miscellaneous: basal ganglia and brainstem lesions, seizures, hypotonia, neonatal hypotonia, amaurosis, nystagmus, dysmorphic features, epilepsy and signs of brainstem involvement, and lactic acidosis.

Contributors

Inventor Institute
Abey Bandara Virginia Tech
Cat. #: 156497
Tool sub type: Continuous
Unit size: 1×10^6 cells / vial
Research Fields: Apoptosis and autophagy;Drug development;Metabolism
Organism: Human
Model: Knock-Out
Growth properties: The mutant grows much slower than the parent cell line. The doubling time of the mutant is 3 times higher than that of the parent cell line.
Alternate name: HEK293?NDUFS2
Product description: The HEK293?NDUFS2 cell line expresses a CRISPR/Cas9 mutated NDUFS2, shown to significantly alter the function of complex I (CI) of the mitochondrial electron transport chain. This NDUFS2 mutant cell line displays disruptions to NDUFS2 that mimic isolated complex I deficiency and can be used as a powerful model of several types of mitochondrial disease. Specific disruptions in the NDUFS2 gene have been reported to present clinically as the following disease conditions:-Leigh syndrome-Cardiomyopathy -Encephalomyopathy -Miscellaneous: basal ganglia and brainstem lesions, seizures, hypotonia, neonatal hypotonia, amaurosis, nystagmus, dysmorphic features, epilepsy and signs of brainstem involvement, and lactic acidosis.
Production details: The cell line is currently stored at Virginia Tech. By culturing approximately 1 million frozen cells in growth media, approximately 40 million cells can be harvested in a two weeks time.
Additional notes: CRISPR edited HEK293 cells. Cancer Research Technology Limited (trading research tools as Ximbio) has been granted a non-exclusive license to the CRISPR-Cas9 technology by ERS Genomics Ltd under the patent rights listed here. This license from ERS Genomics Ltd allows Ximbio to develop and commercialise CRISPR-Cas9 modified cell lines for research use only. Ximbio can prov…
Parental cell line: HEK293
Disease: Leighs
Format: Frozen
Shipping conditions: Dry ice
Growth medium: DMEM medium supplemented with 10% Fetal Bovine Serum and 1% Penicillin-Streptomycin at 37?‚°C temperature and 5-6% CO2.
Recommended controls: HEK293 parent line
Mycoplasma free: Yes
References:

Bandara et al. 2021. Mitochondrion. 58:160-168. PMID: 33744462.

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